Unexpected life-threatening complications in Kabuki syndrome

M M van Haelst, A S Brooks, J Hoogeboom, M W Wessels, D Tibboel, J C de Jongste, J C den Hollander, J J Bongers-Schokking, M F Niermeijer, P J Willems

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6 Citations (Scopus)


Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.

Original languageEnglish
Pages (from-to)170-3
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - 11 Sept 2000


  • Abnormalities, Multiple/diagnostic imaging
  • Biliary Atresia
  • Bronchi/abnormalities
  • Child
  • Child, Preschool
  • Hernia, Diaphragmatic
  • Humans
  • Intellectual Disability
  • Male
  • Radiography
  • Syndrome

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